Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526828_7526829del , CM000681.2:g.7526828_7526829del | GRCh38 |
| NC_000019.9:g.7591714_7591715del , CM000681.1:g.7591714_7591715del | GRCh37 |
| NC_000019.8:g.7497714_7497715del | NCBI36 |
| NG_015806.1:g.9219_9220del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.473_474del MANE Select | ENSP00000264079.5:p.Thr158LysfsTer25 | |
| ENST00000264079.10:c.473_474del | ENSP00000264079.5:p.Thr158LysfsTer25 | |
| ENST00000394321.9:n.553_554del | ||
| ENST00000596008.1:n.435_436del | ||
| ENST00000598406.1:n.294_295del | ||
| ENST00000601003.1:c.473_474del | ENSP00000469074.1:p.Thr158LysfsTer25 | |
| NM_020533.2:c.473_474del | NP_065394.1:p.Thr158LysfsTer25 | |
| NM_020533.3:c.473_474del MANE Select | NP_065394.1:p.Thr158LysfsTer25 |